Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_000179.3

p.K537fs

c.1609_1610fs

Surrounding Variants

2 papers

NM_000179.3

p.K537fs

c.1609_1610fs

1 paper

NM_000179.3

p.K537E

c.1609A>G

2 papers

NM_000179.3

p.K537*

c.1609A>T

3 papers

NM_000179.3

p.Y538insFs

c.1612dupT

2 papers

NM_000179.3

p.S536insFs

c.1608dupT

1 paper

NM_000179.3

p.Y538_L539delFs

c.1613_1616del4

2 papers

NM_000179.3

p.S536fs

c.1606_1607fs

1 paper

NM_000179.3

p.S536G

c.1606A>G

1 paper

NM_000179.3

p.S536delFs

c.1607delG

1 paper

NM_000179.3

p.Y538fs

c.1612_1613fs

1 paper

NM_000179.3

p.Y538fs

c.1612_1613fs

5 papers

NM_000179.3

p.Y538S

c.1613A>C